| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.264 | MVK | Bryony Thompson Marked gene: MVK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.264 | MVK | Bryony Thompson Gene: mvk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.264 | MVK | Bryony Thompson Classified gene: MVK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.264 | MVK | Bryony Thompson Gene: mvk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.263 | MVK |
Bryony Thompson gene: MVK was added gene: MVK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27604308; 1377680 Phenotypes for gene: MVK were set to Mevalonic aciduria MIM#610377; Disorders of sterol biosynthesis Review for gene: MVK was set to GREEN gene: MVK was marked as current diagnostic Added comment: Well-established gene-disease association(see OMIM entry). Mevalonic aciduria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism. Sources: NHS GMS |
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